Health Matters: New Hope for Kids with Neuromuscular Disease

A new treatment is offering families hope. Babies born with severe cases of spinal muscular atrophy often don’t live to their second birthday. Doctors say a new FDA treatments is stopping the effects of the disease.

Dr. Britt Stroud, a pediatric neurologist with Golisano Children’s Hospital of Southwest Florida, says the disease affects one out of 1,000 newborns. Doctors call it the most common genetic cause of infant death. “Usually babies that are born with it, they have low tone, they’re floppy. And then whenever you go to examine them you notice they don’t have reflexes and then you run a bunch of tests and find out genetically they have this spinal muscular atrophy.”

Spinal muscular atrophy, or SMA, is a disease babies are born with that affects the motor neurons causing the nerves and muscles to deteriorate over time. “It begins by affecting all the muscles in the body, and then it effects swallowing and it ultimately affects breathing,” said Dr. Stroud.

Recently, a new FDA treatment, called Spinrza has found to not only stop the disease but reverse its effects. “It’s really interesting. Spinraza is unlike most of the other neurological medications we have. Most of those treat symptoms; this actually treats the underlying etiology. So in a sense it’s actually changing the genetic code,” said Dr. Stroud.

The spinal injection activates a new protein which allows the neurons to start developing normally. “The trials were actually done with infants and they found that they were able to gain mile stones as opposed to not developing anymore,” said Dr. Stroud.

The earlier the diagnosis, the sooner the baby can start treatment and prevent the progression of the disease. “We are giving them hope,” said Dr. Stroud.

Something, until now, doctors have been unable to do with this disease.